Article
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
International journal of molecular sciences - 27 Aug 2020
Leal Andrés Felipe, Benincore-Flórez Eliana, Solano-Galarza Daniela, Garzón Jaramillo Rafael Guillermo, Echeverri-Peña Olga Yaneth, Suarez Diego A, Alméciga-Díaz Carlos Javier, Espejo-Mojica Angela Johana
Abstract excerpt
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the β-hexosaminidases subunits or the GM2 activator protein. Three GM2 gangliosidoses have been described: Tay-Sachs disease, Sandhoff disease, and the AB variant. Central nervous system dysfunction is the main characteristic of GM2 gangliosidoses patients that...
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